KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H00091 | T-B+ 重症複合免疫不全症 | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... | 原発性免疫不全症 |
JAK3 [HSA:3718] [KO:K11218] (SCIDX1) IL2RG [HSA:3561] [KO:K05070] (IMD8) CORO1A [HSA:11151] [KO:K13882] (IMD18) CD3E [HSA:916] [KO:K06451] (IMD19) CD3D [HSA:915] [KO:K06450] (IMD25) CD247 [HSA:919] [KO:K06453] (IMD49) BCL11B [HSA:64919] [KO:K22046] (IMD104) IL7R [HSA:3575] [KO:K05072] (IMD105) PTPRC [HSA:5788] [KO:K06478] (IMD122) POLD3 [HSA:10714] [KO:K03504] |
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| H00092 | T-B- 重症複合免疫不全症 | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... | 原発性免疫不全症 |
ADA [HSA:100] [KO:K01488] RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] AK2 [HSA:204] [KO:K00939] PNP [HSA:4860] [KO:K03783] (IMD26) PRKDC [HSA:5591] [KO:K06642] (IMD58) CARMIL2 [HSA:146206] [KO:K20493] (IMD121) PSMB10 [HSA:5699] [KO:K02733] |
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| H00093 | 複合免疫不全症 | The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell ... | 原発性免疫不全症 |
(CIDX/IMD6) IL2RG [HSA:3561] [KO:K05070] (IMD9) ORAI1 [HSA:84876] [KO:K16056] (IMD10) STIM1 [HSA:6786] [KO:K16059] (IMD11) CARD11 [HSA:84433] [KO:K07367] (IMD12) MALT1 [HSA:10892] [KO:K07369] (IMD15) IKBKB [HSA:3551] [KO:K07209] (IMD16) TNFRSF4 [HSA:7293] [KO:K05142] (IMD17) CD3G [HSA:917] [KO:K06452] (IMD21) GATA2 [HSA:2624] [KO:K17894] (IMD22) LCK [HSA:3932] [KO:K05856] (IMD24) CTPS1 [HSA:1503] [KO:K01937] (IMD37) BCL10 [HSA:8915] [KO:K07368] (IMD40) DOCK2 [HSA:1794] [KO:K12367] (IMD48) ZAP70 [HSA:7535] [KO:K07360] (IMD50) MSN [HSA:4478] [KO:K05763] (IMD55) GINS1 [HSA:9837] [KO:K10732] (IMD59) HYOU1 [HSA:10525] [KO:K09486] (IMD71) ARPC1B [HSA:10095] [KO:K05757] (IMD85) TOM1 [HSA:10043] [KO:K26401] (IMD97) PIK3CG [HSA:5294] [KO:K21289] (IMD110) STK4 [HSA:6789] [KO:K04411] (IMD112) MAP3K14 [HSA:9020] [KO:K04466] (IMD116) CD8A [HSA:925] [KO:K06458] (IMD119) ICOSLG [HSA:23308] [KO:K06710] (IMD120) POLD1 [HSA:5424] [KO:K02327] (IMD128) COPG1 [HSA:22820] [KO:K17267] (IMD131) IRF4 [HSA:3662] [KO:K09445] (IMD132) ITPR3 [HSA:3710] [KO:K04960] (CCHDG) RAG1 [HSA:5896] [KO:K10628] (CCHDG) RAG2 [HSA:5897] [KO:K10988] |
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| H00094 | DNA修復障害に伴う免疫不全症 | A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are ... | 原発性免疫不全症 |
(AT) ATM [HSA:472] [KO:K04728] (ATLD) MRE11A [HSA:4361] [KO:K10865] (NBS) NBS1 [HSA:4683] [KO:K10867] (LIG4S) LIG4 [HSA:3981] [KO:K10777] (BLM) BLM [HSA:641] [KO:K10901] (IMD96) LIG1 [HSA:3978] [KO:K10747] (IMD54) MCM4 [HSA:4173] [KO:K02212] (LICS) NSMCE3 [HSA:56160] [KO:K22823] |
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| H00095 | 外胚葉異形成症に伴う免疫不全症 | Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function ... | 免疫系疾患 |
(EDAID1) IKBKG [HSA:8517] [KO:K07210] (EDAID2) NFKBIA [HSA:4792] [KO:K04734] |
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| H00096 | Toll様受容体シグナル伝達系の障害 | Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon ... | 原発性免疫不全症 |
(IMD67) IRAK4 [HSA:51135] [KO:K04733] (IMD39) IRF7 [HSA:3665] [KO:K09447] (IMD74) TLR7 [HSA:51284] [KO:K05404] (IMD98) TLR8 [HSA:51311] [KO:K10170] |
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| H00097 | WHIM 症候群 | WHIM (an acronym for warts, hypogammaglobulinemia, infections and myelokathexis, a form of neutropenia) syndrome is a congenital immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia ... | 原発性免疫不全症 |
(WHIMS1) CXCR4 [HSA:7852] [KO:K04189] (WHIMS2) CXCR2 [HSA:3579] [KO:K05050] |
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| H00098 | 慢性肉芽腫症 | Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals ... | 原発性免疫不全症 |
(CGDX) CYBB [HSA:1536] [KO:K21421] (CGD1) NCF1 [HSA:653361] [KO:K08011] (CGD3) NCF2 [HSA:4688] [KO:K08010] (CGD3) NCF4 [HSA:4689] [KO:K08012] (CGD4) CYBA [HSA:1535] [KO:K08009] (CGD5) CYBC1 [HSA:79415] [KO:K25863] |
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| H00099 | 白血球粘着不全症 | Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this ... | 原発性免疫不全症 |
(LAD1) ITGB2 [HSA:3689] [KO:K06464] (LAD2) SLC35C1 [HSA:55343] [KO:K15279] (LAD3) FERMT3 [HSA:83706] [KO:K17084] |
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| H00100 | 好中球減少症 | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... | 原発性免疫不全症 |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCN12) COPZ1 [HSA:22818] [KO:K20472] (SCNX) WAS [HSA:7454] [KO:K05747] (CyN) ELANE [HSA:1991] [KO:K01327] |
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| H00101 | 他の食細胞の障害 | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ... | 原発性免疫不全症 | ||
| H00102 | 古典的補体経路の構成要素の障害 | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... | 原発性免疫不全症 |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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| H00103 | 後期補体経路の障害 | Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly ... | 原発性免疫不全症 |
(C5D) C5 [HSA:727] [KO:K03994] (C6D) C6 [HSA:729] [KO:K03995] (C7D) C7 [HSA:730] [KO:K03996] (C8D1) C8A [HSA:731] [KO:K03997] (C8D2) C8B [HSA:732] [KO:K03998] (C9D) C9 [HSA:735] [KO:K04000] C8G [HSA:733] [KO:K03999] |
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| H00104 | 副補体経路の構成要素の障害 | The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... | 原発性免疫不全症 |
(CFBD) CFB [HSA:629] [KO:K01335] (CFDD) CFD [HSA:1675] [KO:K01334] (CFHD) CFH [HSA:3075] [KO:K04004] (CFPD) CFP [HSA:5199] [KO:K15412] |
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| H00105 |
マンノース結合レクチン経路の構成要素の障害 補体レクチン経路の障害 (LCAPD) |
There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune ... | 原発性免疫不全症 |
(LCAPD1) MBL2 [HSA:4153] [KO:K03991] (LCAPD2) MASP2 [HSA:10747] [KO:K03993] (LCAPD3) FCN3 [HSA:8547] [KO:K10104] |
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| H00106 | 補体制御タンパクの障害 | To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins (CRPs). They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP) ... | 原発性免疫不全症 |
SERPING1 [HSA:710] [KO:K04001] C4BPA [HSA:722] [KO:K04002] C4BPB [HSA:725] [KO:K04003] CFI [HSA:3426] [KO:K01333] CD55 [HSA:1604] [KO:K04006] CD59 [HSA:966] [KO:K04008] |
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| H00107 | 他のよく定義された免疫不全症候群 | Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions ... | 原発性免疫不全症 |
WAS [HSA:7454] [KO:K05747] TBX1 [HSA:6899] [KO:K10175] STAT3 [HSA:6774] [KO:K04692] TYK2 [HSA:7297] [KO:K11219] SH2D1A [HSA:4068] [KO:K07990] XIAP [HSA:331] [KO:K04725] ITK [HSA:3702] [KO:K07363] AIRE [HSA:326] [KO:K10603] FOXP3 [HSA:50943] [KO:K10163] RMRP [HSA:6023] [KO:K14576] |
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| H00108 | 自己免疫性リンパ増殖症候群 | Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes ... | 原発性免疫不全症 |
(ALPS1A) FAS [HSA:355] [KO:K04390] (ALPS1B) FASLG [HSA:356] [KO:K04389] (ALPS2A) CASP10 [HSA:843] [KO:K04400] (ALPS2B) CASP8 [HSA:841] [KO:K04398] (ALPS3) PRKCD [HSA:5580] [KO:K06068] (ALPS4/RALD) NRAS [HSA:4893] [KO:K07828] (ALPS4/RALD) KRAS [HSA:3845] [KO:K07827] (ALPS5) CTLA4 [HSA:1493] [KO:K06538] |
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| H00109 | 家族性血球貪食症候群 | Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen ... | 原発性免疫不全症 |
(FHL2) PRF1 [HSA:5551] [KO:K07818] (FHL3) UNC13D [HSA:201294] [KO:K19728] (FHL4) STX11 [HSA:8676] [KO:K08487] (FHL5) STXBP2 [HSA:6813] [KO:K15300] (FHL6) RC3H1 [HSA:149041] [KO:K15690] |
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| H00110 | コレラ | Cholera is an infection of the small intestine caused by toxigenic strains of Vibrio cholerae, mostly belonging to the O1 serogroup but also to the O139 serogroup. Seven cholera pandemics have occurred ... | 細菌感染症 | hsa05110 Vibrio cholerae infection | |
| H00111 | 腸チフス | Typhoid fever, or typhoid, caused by Salmonella enterica serovar Typhi is a systemic febrile disease and endemic disease in many areas of the world, mainly in developing countries. Typhoid is transmitted ... | 細菌感染症 | hsa05132 Salmonella infection | |
| H00112 | パラチフス | Paratyphoid fever is a systemic febrile illness endemic in developing countries where sanitation is lacking and access to clean water is reduced. The disease is similar to typhoid fever [DS:H00111] but ... | 細菌感染症 | ||
| H00113 | サルモネラ感染症 | Salmonellosis (non-typhoid) is an infectious disease caused by any serotype of bacteria in the genus Salmonella, other than Salmonella that causes typhoid and paratyphoid fever. Salmonellosis is one of ... | 細菌感染症 | ||
| H00114 | フルクトース-1,6-ビスホスファターゼ欠損症 | Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis. | 先天性代謝異常症 | FBP1 [HSA:2203] [KO:K03841] | |
| H00115 |
スクラーゼ・イソマルターゼ欠損症 I 型二糖類不耐性 |
Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch. | 先天性代謝異常症 | (CSID) SI [HSA:6476] [KO:K01203] | |
| H00116 |
乳糖不耐症 II 型二糖類不耐症 先天性ラクターゼ欠損症 |
Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose. | 先天性代謝異常症 | LCT [HSA:3938] [KO:K01229] | |
| H00117 | 原発性高シュウ酸尿症 | Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate. | 先天性代謝異常症 |
(HP1) AGXT [HSA:189] [KO:K00830] (HP2) GRHPR [HSA:9380] [KO:K00049] (HP3) HOGA1 [HSA:112817] [KO:K18123] |
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| H00118 | 先天性グリコシル化異常症 I 型 | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves ... | 先天性代謝異常症 |
(CDG1A) PMM2 [HSA:5373] [KO:K17497] (CDG1B) MPI [HSA:4351] [KO:K01809] (CDG1C) ALG6 [HSA:29929] [KO:K03848] (CDG1D) ALG3 [HSA:10195] [KO:K03845] (CDG1E) DPM1 [HSA:8813] [KO:K00721] (CDG1F) MPDU1 [HSA:9526] [KO:K09660] (CDG1G) ALG12 [HSA:79087] [KO:K03847] (CDG1H) ALG8 [HSA:79053] [KO:K03849] (CDG1I) ALG2 [HSA:85365] [KO:K03843] (CDG1J) DPAGT1 [HSA:1798] [KO:K01001] (CDG1K) ALG1 [HSA:56052] [KO:K03842] (CDG1L) ALG9 [HSA:79796] [KO:K03846] (CDG1M) DOLK [HSA:22845] [KO:K00902] (CDG1N) RFT1 [HSA:91869] [KO:K06316] (CDG1O) DPM3 [HSA:54344] [KO:K09659] (CDG1P) ALG11 [HSA:440138] [KO:K03844] (CDG1Q) SRD5A3 [HSA:79644] [KO:K12345] (CDG1R) DDOST [HSA:1650] [KO:K12670] (CDG1S) ALG13 [HSA:79868] [KO:K07432] (CDG1T) PGM1 [HSA:5236] [KO:K01835] (CDG1U) DPM2 [HSA:8818] [KO:K09658] (CDG1WAR) STT3A [HSA:3703] [KO:K07151] (CDG1X) STT3B [HSA:201595] [KO:K07151] (CDG1Y) SSR4 [HSA:6748] [KO:K04571] (CDG1AA) NUS1 [HSA:116150] [KO:K19177] (CDG1BB) DHDDS [HSA:79947] [KO:K11778] (CDG1CC) MAGT1 [HSA:84061] [KO:K19478] (CDG1DD) DHRSX [HSA:207063] [KO:K11170] (CDG1EE) MAN2B2 [HSA:23324] [KO:K12312] |
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| H00119 | 先天性グリコシル化異常症 II 型 | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing ... | 先天性代謝異常症 |
(CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) MOGS [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] (CDG2BB) COG3 [HSA:83548] [KO:K20290] (CDG2CC) UGGT1 [HSA:56886] [KO:K11718] |
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| H00120 | 筋ジストロフィー・ジストログリカノパチー A型 | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | 先天性代謝異常症 |
(MDDGA1) POMT1 [HSA:10585] [KO:K00728] (MDDGA2) POMT2 [HSA:29954] [KO:K00728] (MDDGA3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGA4) FKTN [HSA:2218] [KO:K19872] (MDDGA5) FKRP [HSA:79147] [KO:K19873] (MDDGA6) LARGE [HSA:9215] [KO:K09668] (MDDGA7) CRPPA [HSA:729920] [KO:K21031] (MDDGA8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGA9) DAG1 [HSA:1605] [KO:K06265] (MDDGA10) RXYLT1 [HSA:10329] [KO:K21052] (MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654] (MDDGA12) POMK [HSA:84197] [KO:K17547] (MDDGA13) B4GAT1 [HSA:11041] [KO:K21032] (MDDGA14) GMPPB [HSA:29925] [KO:K00966] |